Researchers from the International Stroke Genetics Consortium, in which participate Dr. Joan Montaner and Dr. Israel Fernández Cadenas from the Neurovascular Diseases group at Vall d’Hebron Institute of Research (VHIR), have discovered the association of a gene, called PHACTR1, with the risk of suffering cervical artery dissection. The results have been published in Nature Genetics.

European and American researchers screened the entire genome of 1,400 patients with cervical artery dissection, some of them treated at Vall d’Hebron, and 14,000 referents without this disease. The aim of the study was to identify genes predisposing to this disease in order to better understand its mechanisms and improve prevention strategies.

Thanks to this in-depth analysis, which is the largest carried out ever, Dr. Israel Fernández Cadenas, researchers from VHIR and the Fundació de la Docència i Recerca MutuaTerrassa, assures that they have discovered that “individuals carrying a certain genetic variant in the PHACTR1 gene are more likely to suffer this disease that represents one of the main causes of stroke among young people”.

In a previous study in which also participated VHIR researchers, this genetic variant had already been associated with people with higher risk of suffering migraine. It was known that migraine was a risk factor to suffer cervical artery dissection, but there was not any biological connection between these two diseases.

Cervical artery dissection is caused by a tear in a brain supplying artery wall (carotid or vertebral) that can lead to compression of adjacent nerves and to blood clotting within the artery, potentially causing occlusion of downstream vessels and brain infarction. Despite its low prevalence –it affects 2,6 out of 100,000 people, it has serious effects in the health of the survivors.

According to Dr. Joan Montaner, “understanding the mechanisms by which this region of the genome appears to influence key vascular functions could have major applications in the treatment of these severe neurovascular diseases”.

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